MCID: CHR359
MIFTS: 21

Chronic Infections, Due to Mbl Deficiency malady

Genetic diseases (common) category

Aliases & Classifications for Chronic Infections, Due to Mbl Deficiency

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Aliases & Descriptions for Chronic Infections, Due to Mbl Deficiency:

Name: Chronic Infections, Due to Mbl Deficiency 46 9
Mannose-Binding Protein Deficiency 46 20 21 22 61
Mannose-Binding Lectin Protein Deficiency 21
Mannose-Binding Lectin Deficiency 21
 
Mbl2 Deficiency 21
Mbl Deficiency 21
Mbp Deficiency 21


Classifications:



External Ids:

OMIM46 614372

Summaries for Chronic Infections, Due to Mbl Deficiency

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Genetics Home Reference:21 Mannose-binding lectin deficiency is a condition that affects the immune system. People with this condition have low levels of an immune system protein called mannose-binding lectin in their blood. These individuals are prone to recurrent infections, including infections of the upper respiratory tract and other body systems. People with this condition may also contract more serious infections such as pneumonia and meningitis. Depending on the type of infection, the symptoms caused by the infections vary in frequency and severity.

MalaCards based summary: Chronic Infections, Due to Mbl Deficiency, also known as mannose-binding protein deficiency, is related to cryptosporidiosis and influenza. An important gene associated with Chronic Infections, Due to Mbl Deficiency is MBL2 (mannose-binding lectin (protein C) 2, soluble). Affiliated tissues include liver.

OMIM:46 Mannose-binding lectin (MBL) deficiency, defined as MBL protein level of less than 100 ng/ml, is present in about 5% of... (614372) more...

Related Diseases for Chronic Infections, Due to Mbl Deficiency

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Graphical network of the top 20 diseases related to Chronic Infections, Due to Mbl Deficiency:



Diseases related to chronic infections, due to mbl deficiency

Symptoms for Chronic Infections, Due to Mbl Deficiency

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Clinical features from OMIM:

614372

Drugs & Therapeutics for Chronic Infections, Due to Mbl Deficiency

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Drug clinical trials:

Search ClinicalTrials for Chronic Infections, Due to Mbl Deficiency

Search NIH Clinical Center for Chronic Infections, Due to Mbl Deficiency

Genetic Tests for Chronic Infections, Due to Mbl Deficiency

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Genetic tests related to Chronic Infections, Due to Mbl Deficiency:

id Genetic test Affiliating Genes
1 Mannose-Binding Protein Deficiency20 22 MBL2

Anatomical Context for Chronic Infections, Due to Mbl Deficiency

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MalaCards organs/tissues related to Chronic Infections, Due to Mbl Deficiency:

31
Liver

Animal Models for Chronic Infections, Due to Mbl Deficiency or affiliated genes

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Publications for Chronic Infections, Due to Mbl Deficiency

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Variations for Chronic Infections, Due to Mbl Deficiency

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Clinvar genetic disease variations for Chronic Infections, Due to Mbl Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MBL2NM_000242.2(MBL2): c.161G> A (p.Gly54Asp)single nucleotide variantPathogenic, risk factorrs1800450GRCh37Chr 10, 54531235: 54531235
2MBL2NM_000242.2(MBL2): c.170G> A (p.Gly57Glu)single nucleotide variantPathogenic, risk factorrs1800451GRCh37Chr 10, 54531226: 54531226
3MBL2NM_000242.2(MBL2): c.154C> T (p.Arg52Cys)single nucleotide variantPathogenic, risk factorrs5030737GRCh37Chr 10, 54531242: 54531242

Expression for genes affiliated with Chronic Infections, Due to Mbl Deficiency

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Search GEO for disease gene expression data for Chronic Infections, Due to Mbl Deficiency.

Pathways for genes affiliated with Chronic Infections, Due to Mbl Deficiency

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Compounds for genes affiliated with Chronic Infections, Due to Mbl Deficiency

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GO Terms for genes affiliated with Chronic Infections, Due to Mbl Deficiency

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Sources for Chronic Infections, Due to Mbl Deficiency

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet